ArticleBMC genetics2015
Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.
Article in BMC genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.Molecular psychiatry · 2023Article
- Ancestral haplotype reconstruction in endogamous populations using identity-by-descent.PLoS computational biology · 2021Article
- Structural variation in the glycogen synthase kinase 3β and brain-derived neurotrophic factor genes in Japanese patients with bipolar disorders.Neuropsychopharmacology reports · 2020Article
- Hippocampal transcriptome reveals novel targets of FASD pathogenesis.Brain and behavior · 2019Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.Molecular psychiatry · 2018Article
- Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.Translational psychiatry · 2018Article
- Rare deleterious mutations are associated with disease in bipolar disorder families.Molecular psychiatry · 2017Article
- Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar affective disorder.Psychiatric genetics · 2017Article
- Common Neurogenetic Diagnosis and Meso-Limbic Manipulation of Hypodopaminergic Function in Reward Deficiency Syndrome (RDS): Changing the Recovery Landscape.Current neuropharmacology · 2017Review
- The Sardinian Puzzle: Concentration of Major Psychoses and Suicide in the Same Sub-Regions Across One Century.Clinical practice and epidemiology in mental health : CP & EMH · 2017Article
- Commonalities in Development of Pure Breeds and Population Isolates Revealed in the Genome of the Sardinian Fonni's Dog.Genetics · 2016Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundBipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder. We identified CNV regions arising from common ancestral mutations by utilizing the pedigree information. By combining this analysis with whole genome sequence data in the same individuals, we also explored the role of compound heterozygosity.
resultsHere we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin but present in a large number of Amish individuals. In addition, we highlight a set of CNVs found at higher frequencies in BP individuals, and within genes known to play a role in human development and disease. As in prior reports, we find no evidence for an increased burden of CNVs in BP individuals, but we report a trend towards a higher burden of CNVs in known Mendelian disease loci in bipolar individuals (BPI and BPII, p = 0.06).
conclusionsWe conclude that CNVs may be contributing factors in the phenotypic presentation of mood disorders and co-morbid medical conditions in this family. These results reinforce the hypothesis of a complex genetic architecture underlying BP disorder, and suggest that the role of CNVs should continue to be investigated in BP data sets.
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